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Wednesday, September 22, 2021

A possible new pathway for treating epileptic seizures in patients with autism

Autism impacts about 2% of kids in the United States, and about 30% of those kids have seizures. Recent large-scale genetic research revealed that genetic variants in a sodium channel, known as voltage-gated sodium channel Nav1.2, is a number one reason for autism. Overactive sodium channels in the neuron trigger seizures. Doctors usually deal with seizures by giving the affected person a medicine meant to shut the sodium channels, decreasing the circulate of sodium via axons. For many patients such remedy works, however in some instances — as much as 20 or 30% — the remedy would not work. These kids have “loss-of-function” variants in Nav1.2, which is anticipated to scale back the sodium channel exercise as “anti-seizures.” Thus, how the deficiency in sodium channel Nav1.2 results in seizures is a serious thriller in the sphere that puzzles physicians and scientists.

Yang Yang, an assistant professor of medicinal chemistry and molecular pharmacology at Purdue University, and his group, together with first-author of the paper post-doctoral researcher Jingliang Zhang, tackled the difficulty. They found that in Nav1.2 poor neurons, the expressions of many potassium channels are surprisingly decreased. The Nav1.2 deficiency itself would not trigger seizures; the difficulty arises when the potassium channels over-compensate for the sodium channels’ deficiency by shutting down too many potassium channels, making the neuron hyperexcitable, which causes seizures. In such instances, treating the sodium channel clearly doesn’t work. Yang and his group counsel that creating medicines to open the potassium channels would assist management seizures in these patients. Notably, researchers from the University of California, San Francisco led by Kevin Bender’s analysis group made the same commentary independently. Yang and Bender’s papers have been printed back-to-back in the identical difficulty of Cell Reports.

“We’re looking at genetic makeup, so doctors can proscribe a drug and gene therapy based on genes identified — personalized medicines,” Yang stated. “Our research points toward a direction for future research, maybe future treatments. We are peacetime warriors, fighting humanity’s biggest enemy: disease. There are kids dying because of these conditions. Our goal is to help them, to help their parents and their families. This kind of basic research is a vital part of finding new drugs.”


This work is supported by the Showalter Research Trust and the Purdue Big Idea Challenge 2.0 on Autism (to Y.Y.). The analysis reported in this publication was additionally supported by the National Institute of Neurological Disorders and Stroke of the National Institutes of Health (R01NS117585 and R01NS123154 to Y.Y.). The authors gratefully acknowledge help from the FamilieSCN2A Foundation for Action Potential Grant help, and Purdue Institute for Drug Discovery and Purdue Institute for Integrative Neuroscience for extra funding help. This venture was supported in half by the Indiana Spinal Cord and Brain Injury Research Fund and the Indiana CTSI, funded in half by UL1TR002529 from the NIH. The Yang lab appreciates bioinformatics help from the Collaborative Core for Cancer Bioinformatics (C3B) of the IU Simon Comprehensive Cancer Center (P30CA082709), PCCR (P30CA023168) and the Walther Cancer Foundation.

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Materials supplied by Purdue University. Original written by Brittany Steff. Note: Content could also be edited for type and size.

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